VPS11-related autosomal recessive hypomyelinating leukodystrophy

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Synonyms: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy

A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development hypotonia spasticity and acquired microcephaly. Seizures hearing loss visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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VPS11-related autosomal recessive hypomyelinating leukodystrophy?

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

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Clinical Trials

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